Emery-Dreifuss muscular dystrophy: Report of five cases in a family and review of the literature

L. Merlini, C. Granata, P. Dominici, S. Bonfiglioli

Research output: Contribution to journalArticle

Abstract

Clinical and laboratory data of five cases of Emery-Dreifuss muscular dystrophy in three generations of a family are reported. Severity of the myopathic picture varied in the five patients considerably from almost noninvolvement to severe manifestations. In contrast, cardiomyopathy was severe not only in three adults but also in a 13-year-old boy. A review is given of 73 cases from the 6 major families reported in the literature. Most striking is the high incidence of sudden death. A wide variability in the severity of the myopathic picture was also evident.

Original languageEnglish
Pages (from-to)481-485
Number of pages5
JournalMuscle and Nerve
Volume9
Issue number6
Publication statusPublished - 1986

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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    Merlini, L., Granata, C., Dominici, P., & Bonfiglioli, S. (1986). Emery-Dreifuss muscular dystrophy: Report of five cases in a family and review of the literature. Muscle and Nerve, 9(6), 481-485.